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Recent Webinars

Diagnostic and therapeutic approaches to long QT syndrome (LQTS)

Michael J. Ackerman, M.D., Ph.D.
December 14, 2016
Series: Invitae Insights
View Recording

We are pleased to jointly present a three part medical education webinar series with the Sudden Arrhythmia Death Syndromes (SADS) Foundation. The series is designed to educate genetic counselors, physicians, and other healthcare providers about the care of families with inherited arrhythmias and implications for genetic testing.

In this second webinar, Michael J. Ackerman, M.D., Ph.D. presents the latest diagnostic and therapeutic approaches to long QT syndrome. 

Dr. Ackerman is the Windland Smith Rice Cardiovascular Genomics Research Professor and Professor of Medicine, Pediatrics, and Pharmacology at the Mayo Clinic in Rochester, Minnesota. He is a consultant in cardiovascular diseases and pediatric cardiology and serves as Director of Mayo Clinic’s Long QT Syndrome/Genetic Heart Rhythm Clinic and the Windland Smith Rice Sudden Death Genomics Laboratory.

Dr. Ackerman strives to fulfill the two-fold objective of medical education and biomedical research, as stated by Dr. Charles H. Mayo, “to heal the sick and to advance the science.”

 

Topic: Cardiology
Tags: LQTS

Latest Diagnostic and Treatment Strategies for ARVD/ARVC

Hugh Calkins, MD and Brittany Murray, CGC
November 22, 2016
Series: Invitae Insights
View Recording

We are pleased to jointly present a three part medical education webinar series with the Sudden Arrhythmia Death Syndromes (SADS) Foundation. The series is designed to educate genetic counselors, physicians, and other healthcare providers about the care of families with inherited arrhythmias and implications for genetic testing.

In this first webinar, Hugh Calkins, M.D. and Brittney Murray, M.S., CGC, both of The Johns Hopkins Hospital, discuss the latest diagnostic and treatment strategies for arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Dr. Calkins is the Nicholas J. Fortuin M.D. professor of cardiology and director of the electrophysiology laboratory and arrhythmia service at The Johns Hopkins Hospital.

Ms. Murray is the clinical genetic counselor/program coordinator of the Johns Hopkins Hospital ARVD/C program.

Topic: Cardiology
Tags: ARVD, ARVC

PMS2 pseudogene and disambiguation

Erin O'Leary, MS, CGC
October 27, 2016
Series: Leading with Science
View Recording

Lynch syndrome is characterized by familial predisposition to cancers of the colon, endometrium, ovary, stomach, and urinary tract. 4–11% of cases are caused by variants in PMS2. Testing for inherited PMS2 variants is hampered by a pseudogene, PMS2CL, which has nearly identical homology to PMS2 in exons 12–15 of the gene. Therefore, it is difficult to determine if a variant is in PMS2 or PMSCL and different and innovative methods are needed for analysis of this region.

Erin O’Leary, MS, LCGC discusses Invitae’s methods to disambiguate variants detected in PMS2 exons 12–15. Variant interpretation in this region of PMS2 is highly dependent on laboratory methods. Therefore, a laboratory’s technology and methods are crucial in avoiding misdiagnoses of Lynch syndrome and inappropriate management.


Mosaic genetic variants in hereditary germline genetic testing: the expected and the unexpected

Dr. Anne Deucher, Molecular Genetic Pathology, Hematopathology, University of California, San Francisco, and Invitae
May 20, 2016
View Recording

Next-generation sequencing (NGS) technology with deep sequencing coverage enhances sensitivity to detection and allows identification allele balances suggestive of low-level mosaicism that was recently undetectable by Sanger sequencing. Detection of a mosaic variant in a patient being tested for an inherited cancer predisposition poses challenging considerations for clinical interpretation and genetic counseling.

To facilitate understanding of the clinical manifestations, this presentation describes the causative biologic events underlying germline, somatic, and gonosomal constitutional mosaicism. Because a finding of mosaicism in the peripheral blood may have prognostic significance related to risk for development of a hematopoietic malignancy, the presentation explores the concept and criteria for the newly proposed entity of “clonal hematopoiesis of indeterminate significance” and discusses the role of TP53 mutations in the origin and evolution of selected clones with increased neoplastic potential created secondary to cytotoxic chemotherapy and/or radiotherapy exposure.

Follow-up clinical management recommendations are presented that can be used when a mosaic variant is unexpectedly found in the peripheral blood. Finally, because mosaic findings are expected and can affect inherited genetic disease testing in patients with known hematopoietic malignancies, the presentation also covers important considerations for clinical interpretation, including limitations to testing in patients testing with known circulating hematopoietic neoplasms.


How to test a test

Steve Lincoln, Invitae
May 11, 2016
Series: Leading with Science
View Recording

What does it mean to be a gold standard in genetic testing? At Invitae, we believe there’s a new gold standard today, one that includes both high quality testing and a dedication to improving medicine through data sharing.

In this webinar, Steve Lincoln, head of scientific affairs at Invitae, discusses ways in which you can make sure the testing you provide your patients meets a high standard of excellence.

Invitae’s philosophy is to combine thoroughly validated analysis with a dedication to submitting our variant interpretations into the public domain. In this way we are setting a new gold standard.


KCNQ2-related epilepsy: impact of genetic testing

John J. Millichap, MD FAAP, Ann & Robert H. Lurie Children’s Hospital of Chicago and Northwestern University Feinberg School of Medicine
November 17, 2015
Series: Invitae Insights
View Recording

Several genes have been implicated in causing genetic forms of epilepsy. In this webinar, Dr. John Millichap will describe the molecular impact of KCNQ2, a gene responsible for causing early onset epilepsy. He will also share insight into the advocacy work of two organizations that provide education, resources, and support to affected families.


Hereditary cancer genetic testing with Invitae: Broader and more flexible testing options

Tali Ekstein, MS, LCGC
November 10, 2015
Series: Leading with Science
View Recording

Invitae recently announced the launch of hundreds of new genes and expanded panels. What does that mean for hereditary cancer testing? In this short webinar, Invitae genetic counselor Tali Ekstein describes the new and expanded panels, explains the reasoning behind each grouping of genes, walks through how to order the new panels and genes, and shares the resources we have developed for you.

For additional information on limited-evidence genes for hereditary cancer, please see the webinar Hereditary Cancer Limited-Evidence Genes: What are They?
 


Hereditary Cancer Limited-Evidence Genes: What are They?

Michael Anderson, PhD and Daniela Iacoboni, MS, LCGC
November 04, 2015
Series: Leading with Science
View Recording

With the recent launch of new panels and genes, Invitae has introduced a new category of genes: limited-evidence genes. Invitae has rigorously evaluated the literature to determine whether an association between the gene and specific condition has been established. In this webinar, we will review cases explaining the groupings of specific panels and the evidence.


Cardiovascular genetic testing with Invitae

Nicole M. Johnson, ScM, LCGC, Invitae Genetic Counselor
October 19, 2015
View Recording

Invitae is making high-quality cardiovascular genetic testing faster and more affordable than ever before. Our expanded test menu includes broad, comprehensive, and combined panels, as well as single-gene tests.

In this webinar, Invitae genetic counselor Nicole M. Johnson describes our new cardiovascular offerings as well as our flexible menu, with which you can easily select a pre-curated panel, combine multiple panels, or customize your own panel with one click. Our affordable and transparent pricing allows you to choose the right genes for your patient, knowing exactly what it will cost.

Invitae’s team of medical and genetic experts combines full-gene next-generation sequencing and exonic copy number analysis with rigorous evidence-based variant classification methods to provide clearly interpreted diagnostic results.


Full PMS2 at Invitae: Cheaper, Faster, Better

Federico Monzon, MD, FCAP Dan Kvitek, PhD
August 18, 2015
View Recording

Sequencing the PMS2 gene is difficult. Accurately analyzing complex portions of this gene for sequence and del/dup variants usually requires expensive and complex lab techniques. We have developed a method for full PMS2 sequencing and deletion/duplication analysis that offers both the same high quality and the same affordable price you’ve come to expect from Invitae.

Our new, highly accurate method covers both PMS2 and its pseudogene, PMS2CL. The trick lies in evaluating all reads from both genes as if they belonged only to PMS2, and then using a bioinformatic screen to call variants across this region. In cases where no variants are found, the sample can continue through the testing process. In cases with positive screen findings, we use alternate technologies to determine whether the variant is in PMS2 or PMS2CL.

Join our webinar to learn about Invitae’s innovative approach to PMS2 exons 12-15, including how we thoroughly validated this process.

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